Work

Congenital Secondary Hypothyroidism Caused by Exon Skipping due to a Homozygous Donor Splice Site Mutation in the TSHβ-Subunit Gene

Year: 2002

Type: article

Study design: Case Report

Source: The Journal of Clinical Endocrinology & Metabolism

DOI: 10.1210/jcem.87.1.8154

Authors: Joachim Pohlenz, Alexandra Dumitrescu, Ulrich Aumann, Gerhard Koch, Ralph Melchior, Dirk Prawitt, Samuel Refetoff

Institutions: Johannes Gutenberg University Mainz, University Medical Center of the Johannes Gutenberg University Mainz, University of Chicago

Language: English

Topic: Thyroid Disorders and Treatments

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: National Institute of Diabetes and Digestive and Kidney Diseases, National Center for Research Resources

Awards: G1164413914, G3192969681

OpenAlex ID: W1997631749

FWCI: 3.424

Cites: 16

Cited by: 54

Related to: 10